ClinVar Miner

List of variants in gene ACVR2B reported as likely benign for Heterotaxy, visceral, 4, autosomal

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001106.4(ACVR2B):c.1075-5C>T rs115155428 0.00657
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_001106.4(ACVR2B):c.*1613C>T rs539790661 0.00312
NM_001106.4(ACVR2B):c.811-12G>A rs144849143 0.00302
NM_001106.4(ACVR2B):c.*1815G>A rs188157499 0.00227
NM_001106.4(ACVR2B):c.*2025G>C rs141130205 0.00198
NM_001106.4(ACVR2B):c.*1656A>T rs112507772 0.00126
NM_001106.4(ACVR2B):c.*4741T>C rs571225213 0.00098
NM_001106.4(ACVR2B):c.*1831G>A rs148198904 0.00086
NM_001106.4(ACVR2B):c.1444C>T (p.Arg482Trp) rs144370188 0.00035
NM_001106.4(ACVR2B):c.1477C>T (p.Leu493Phe) rs150752796 0.00026
NM_001106.4(ACVR2B):c.1269G>A (p.Ser423=) rs146067304 0.00017
NM_001106.4(ACVR2B):c.1452G>A (p.Ser484=) rs56280856 0.00016
NM_001106.4(ACVR2B):c.960-19T>C rs41285125 0.00016
NM_001106.4(ACVR2B):c.210C>T (p.Ile70=) rs145456109 0.00015
NM_001106.4(ACVR2B):c.112C>T (p.Leu38=) rs767336154 0.00014
NM_001106.4(ACVR2B):c.1410C>T (p.Ser470=) rs141985115 0.00012
NM_001106.4(ACVR2B):c.370+20G>T rs370286614 0.00010
NM_001106.4(ACVR2B):c.*3758A>G rs185712997 0.00006
NM_001106.4(ACVR2B):c.*767C>T rs371324588 0.00006
NM_001106.4(ACVR2B):c.243C>T (p.Asp81=) rs781394045 0.00004
NM_001106.4(ACVR2B):c.366G>A (p.Pro122=) rs551737290 0.00003
NM_001106.4(ACVR2B):c.*9737C>T rs549166852 0.00001
NM_001106.4(ACVR2B):c.1209A>G (p.Ala403=) rs372522416 0.00001
NM_001106.4(ACVR2B):c.260+10G>C rs200401350 0.00001
NM_001106.4(ACVR2B):c.260+7C>G rs147683346 0.00001
NM_001106.4(ACVR2B):c.482G>A (p.Arg161Gln) rs572594763 0.00001
NM_001106.4(ACVR2B):c.99C>T (p.Asn33=) rs759328980 0.00001
NM_001106.4(ACVR2B):c.1075-19C>T
NM_001106.4(ACVR2B):c.1080C>T (p.Gly360=)
NM_001106.4(ACVR2B):c.1179G>T (p.Leu393=) rs1710030723
NM_001106.4(ACVR2B):c.1287G>A (p.Glu429=)
NM_001106.4(ACVR2B):c.1530A>G (p.Ser510=)
NM_001106.4(ACVR2B):c.1536C>T (p.Ile512=)
NM_001106.4(ACVR2B):c.260+12C>T
NM_001106.4(ACVR2B):c.261-8G>A rs971663776
NM_001106.4(ACVR2B):c.351A>G (p.Pro117=) rs1709941256
NM_001106.4(ACVR2B):c.371-9G>C rs374269276
NM_001106.4(ACVR2B):c.420C>T (p.Ala140=)
NM_001106.4(ACVR2B):c.507T>C (p.His169=)
NM_001106.4(ACVR2B):c.510G>C (p.Val170=)
NM_001106.4(ACVR2B):c.702C>T (p.Phe234=)
NM_001106.4(ACVR2B):c.981A>G (p.Val327=)

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